Hello,
I have a 9yr male child with a thus far undiagnosed syndrome.
He has just had his esophagus scoped to remove food stuck for the 4th time in 2 years. He has had the bairum swallow which showed our previous Dr. nothing abnormal. This time with a different Dr. he stated after the scope that his esophagus does not move. He stated that it is as big around as your pinkey finger and does not stretch at all. when I asked if the muscels workd he said no. I asked about treatment and he said that there wasn't any. Is this true? Also my son has never been able to be potty trianed for #2. He has leakage with out a proper bowel movement. We have seen many Dr. for this as well and all that they do is check his sphincter which they all say works well and give us more Mirilax which we have used for years. I make sure to get lots of fiber in his diet. If his esophagus isn't working is there a chance his lower GI isn't working right as well? Is there a condition like this? I have looked on the internet but there is to much with out having more info. Any help work be appricated as my boy has been to so many Dr.s that all agree that he is dev.delayed and that things like his tongue are odd and that he is small but they give no other answers. There is no history on either side of his family for any of his oddities. If you know of a Great Doctor that could help diagnose and treat please let me know. I would travel anywhere for great help! He is a wonderful godsend.
Thank you!!!!

Generally, the two issues are thought of separately (esophagus and colon) but it is possible that there may be relationship between them.

Regarding the constipation, I would strongly suggest that your son have a suction rectal biopsy to look for Hirschsprung's disease if this has not already been done. Hirschsprung's is a condition where the nerve cells of the intestines are absent and thus do not contract the colon properly to allow for normal bowel movements. This absence of nerves may involve just a small portion of the colon, the entire colon, or may stop anywhere in between. I would also recommend he be checked for celiac disease and hypothyroidism, common causes of constipation that often are not thought of.

The esophagus issues sounds as if it is a condition known as achalasia. This is essentially where the esophagus muscles are contracted and won't relax. There are several treatment options for this. Many doctors refer patients with this to a qualified GI surgeon for a myotomy (muscle division) becuase this treatment is highly effective and has a rapid recovery time.

Some will try calcium channel blockers to induce muscle relaxation. This may or may not work. Esophageal dilation is also performed with success in some patients.

I would recommend that you see a Pediatric GI specialist to have your child evaluated and discuss treatment. It is very likely that there are some good treatments for your son.